Article
A Novel Compound Heterozygous Mutation in the IL12RB1 Gene Causes Susceptibility To Mycobacterium Tilburgii Infection.
Journal of clinical immunology - 30 Sept 2025
Qian Mengqing, Zhou Jingyu, Chen Peidong, Jiang Ning, Wang Ting, Chen Xinchang, Xu Haoxin, Zhou Feiran, Yang Yixuan, Lin Xing, Yang Qingluan, Shao Lingyun, Ruan Qiaoling, Zhang Wenhong
Abstract excerpt
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare clinical syndrome that is characterized by selective vulnerability to intracellular pathogens. Deficiency in IL12RB1 is the most common type of MSMD but the heterogeneity of its clinical Manifestation Makes precise diagnosis difficult. Here, we report a previously healthy 29 year-old woman who had suffered from disseminated infection with...
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